Thrombophilia | Prevalence | Relative risk (absolute annualized risk) of initial VTE* | Relative risk of recurrent VTE | Relative risk (absolute annualized risk) of initial VTE, OCP users*¶ | Relative risk (absolute annualized risk) of initial VTE, HRT users*¶Δ | Absolute risk of VTE in pregnancy* |
FVL heterozygous | 2 to 7% | 3.48 to 5.51 (0.05 to 0.2%) | 1.1 to 1.8 | 2.47 to 15.04 (0.1 to 0.6%) | 1.4 to 13.16 (1.6 to 5.97%) | 0.5% at age <35, 0.7% at age ≥35 |
FVL homozygous | 0.06 to 0.25% | 6.79 to 19.29 (0.8%) | 1.8 | Uncertain | Uncertain | 2.2% at age <35, 3.4% at age ≥35 |
PGM heterozygous | 1 to 2% | 2.25 to 3.48 (0.13%) | 0.7 to 2.3 | 3.60 to 8.63 | (2.85%) | 0.4% at age <35, 0.6% at age ≥35 |
PGM homozygous | Rare | 2.19 to 20.72 | Uncertain | Uncertain | Uncertain | Not available |
Compound FVL and PGM heterozygosity | 0.1% | 1.13 to 5.04 (0.42%) | 2.7 | 3.79 to 76.47 (0.17%) | Uncertain | 5.5% at age <35, 8.2% at age ≥35 |
PC deficiency | 0.2 to 0.5% | 10 (0.4 to 2.3%) | 1.8 | 1.7 to 23.9 (1.7 to 7.1%) | (2.96%) | 0.7% at age <35, 1.1% at age ≥35 |
PS deficiency | 0.1 to 0.7% | 9.6 (0.7 to 3.2%) | 1.0 | 1.4 to 17.1 (1.3 to 2.4%) | (2.3%) | 0.7% at age <35, 1.0% at age ≥35 |
AT deficiency | 0.02% | 10 to 30 (1.2 to 4.4%) | 2.6 | 1.4 to 115.8 (2.5 to 5.1%) | (5.73%) | 6.1% at age <35, 9.0% at age ≥35 |
APS | 2% | 7 | 1.5 to 6.8 | 0.3 to 3.1 | (1.05 to 2.63%) | 15.8 |
VTE: venous thromboembolism; OCP: oral contraceptive pill (containing estrogen); HRT: hormone replacement therapy (containing estrogen); FVL: factor V Leiden; PGM: prothrombin gene G20210A mutation; PC: protein C; PS: protein S; AT: antithrombin; APS: antiphospholipid syndrome.
* Data are taken from reference 14; therefore, absolute rates may differ from the other sources since calculations are based on prevalence and relative risk.[1-13]
¶ Relative risks are compared with nonusers without thrombophilia.
Δ With the exception of heterozygous FVL, estimates are based on modeling rather than epidemiologic studies.From: Stevens SM, Woller SC, Bauer KA, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis 2016; 41:154. Available at: https://link.springer.com/article/10.1007%2Fs11239-015-1316-1. Copyright © 2016 Stevens SM, Woller SC, Bauer KA, et al. Reproduced under the terms of the Creative Commons Attribution License 4.0.
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